HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000459237.2:p.[Leu1026_Leu1040delinsSerAlaTrpTyrTyrTyrTyrGluGlnHisCysTyrLeuGluPhe;Thr1042_Lys1047delinsAsnTrpSerThrProGlu;Met1049_Ile1051del;Asp1053_Ser1054delinsAlaHis] |
CA2580613444
ENST00000566069.6:c.3074dup
|